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Cranial CT and MRI in diseases with DNA repair defects

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The CT and MRI appearances of 5 patients with Cockayne's syndrome, 5 with ataxia telangiectasia and 1 with Fanconi's anaemia are reported. These conditions, together with Bloom's syndrome and xeroderma pigmentosum are regarded as disorders of DNA repair. Characteristic CT and MRI features of Cockayne's syndrome include generalised atrophy, calcification in basal ganglia and dentate nuclei and white matter low density. Neuroradiological findings in the other DNA repair disorders are nonspecific.

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Demaerel, P., Kendall, B.E. & Kingsley, D. Cranial CT and MRI in diseases with DNA repair defects. Neuroradiology 34, 117–121 (1992). https://doi.org/10.1007/BF00588156

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Key words

  • Cockayne's syndrome
  • Ataxia telangiectasia
  • Fanconis anaemia
  • Central nervous system
  • MRI
  • CT